Michael H. Farrell

European best practice guidelines for cystic fibrosis neonatal screening

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut. All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS programmes. Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families.

Genomics in Clinical Practice: Lessons from the Front Lines

This Commentary explores the challenges in launching a medical genomics clinic for whole genome sequencing and analysis of patient samples. The price of whole-genome and -exome sequencing has fallen to the point where these methods can be applied to clinical medicine. Here, we outline the lessons we have learned in converting a sequencing laboratory designed for research into a fully functional clinical program.

Pediatric Residents’ Use of Jargon During Counseling About Newborn Genetic Screening Results

OBJECTIVE. The goal was to investigate pediatric residents’ usage of jargon during discussions about positive newborn screening test results. METHODS. An explicit-criteria abstraction procedure was used to identify jargon usage and explanations in transcripts of encounters between residents and standardized parents of a fictitious infant found to carry cystic fibrosis or sickle cell hemoglobinopathy. Residents were recruited from a series of educational workshops on how to inform parents about positive newborn screening test results. The time lag from jargon words to explanations was measured by using “statements,” each of which contained 1 subject and 1 predicate. RESULTS. Duplicate abstraction revealed reliability κ of 0.92. The average number of unique jargon words per transcript was 20; the total jargon count was 72.3 words. There was an average of 7.5 jargon explanations per transcript, but the explained/total jargon ratio was only 0.17. When jargon was explained, the average time lag from the first usage to the explanation was 8.2 statements. CONCLUSION. The large number of jargon words and the small number of explanations suggest that physicians’ counseling about newborn screening may be too complex for some parents.

Initially Misleading Communication of Carrier Results After Newborn Genetic Screening

Background. Newborn screening saves lives, but the way in which parents learn of a positive screening test is also important for adherence with treatment plans and avoidance of psychosocial complications. The first messages provided to parents may be particularly important for understanding, especially when the infant is found to be a heterozygous carrier for sickle cell hemoglobinopathy (SCH) or cystic fibrosis (CF). This study investigated the prevalence of “initially misleading” communication, defined as the inclusion of 1 of 55 “bad-news” content items (eg, the screening test is positive) before any of 39 “good-news” content items (eg, the infant is healthy, normal, a carrier, or otherwise without problems). Methods. As part of a larger study of the content of counseling after newborn genetic screening, we used a quantitative, explicit-criteria method to abstract 59 transcribed conversations between pediatric residents and standardized parents of an “infant” who was found through newborn screening to carry either CF or SCH. Results. Of 59 transcripts, 41 were found to be misleading (at least 1 bad-news content statement before the first good-news content statement). There were significantly more misleading likely-CF-carrier than SCH-carrier transcripts (89.7% vs 50%). Among the misleading transcripts, the mean number of misleading statements was 5.5. The mean distance between the first bad-news and first good-news statements was 28.1 statements (20.5% of the total duration of counseling). Discussion. The high prevalence of misleading content and the time lag before clarification does not bode well for parental understanding of infant carrier status. Future projects should improve curricula for training programs and develop quality-assurance efforts for community clinicians both to improve parental understanding and help assuage societys fears about the safety of genetic screening technologies.

Content of communication by pediatric residents after newborn genetic screening.

Background. Newborn screening saves lives, but psychosocial complications after genetic screening have led to doubts about expanding programs. Because complications have been blamed on ineffective communication of results, a population-scale system to ensure communication quality may improve outcomes. The objective of this study was to develop and evaluate a method to assess the content of communication after newborn genetic screening. Methods. We abstracted content data and calculated quantitative scores for 3 communication quality indicators (key content, early placement of good news, and excessive background content) for 59 transcribed conversations between pediatric residents and simulated parents of an “infant” who was found via newborn screening to carry either cystic fibrosis or sickle cell hemoglobinopathy. Results. Only 8.5% of transcripts contained the key content items that were thought to be necessary for parental understanding; 27.1% included reassuring news about carrier status within the first 10% of content. Scores for 3 quality indicators fell in the low performance range in 35.6%, 30.5%, and 27.1% of transcripts, respectively. The most common topic was background about the disease (22% of content statements) even though the infant did not have the disease. Surprisingly, 50% of sickle trait transcripts included counseling about a possible risk for sudden death. Conclusions. Assessment of the content domain of communication quality identified some high-quality communication interspersed with many missed opportunities. If integrated into newborn screening, our method may help to alleviate some of societys ethical concerns about benefit and risk after newborn and other genetic screening.

A Method to Quantify Residents’ Jargon Use During Counseling of Standardized Patients About Cancer Screening

BackgroundJargon is a barrier to effective patient-physician communication, especially when health literacy is low or the topic is complicated. Jargon is addressed by medical schools and residency programs, but reducing jargon usage by the many physicians already in practice may require the population-scale methods used in Quality Improvement.ObjectiveTo assess the amount of jargon used and explained during discussions about prostate or breast cancer screening. Effective communication is recommended before screening for prostate or breast cancer because of the large number of false-positive results and the possible complications from evaluation or treatment.ParticipantsPrimary care internal medicine residents.MeasurementsTranscripts of 86 conversations between residents and standardized patients were abstracted using an explicit-criteria data dictionary. Time lag from jargon words to explanations was measured using “statements,” each of which contains one subject and one predicate.ResultsDuplicate abstraction revealed reliability κ = 0.92. The average number of unique jargon words per transcript was 19.6 (SD = 6.1); the total jargon count was 53.6 (SD = 27.2). There was an average of 4.5 jargon-explanations per transcript (SD = 2.3). The ratio of explained to total jargon was 0.15. When jargon was explained, the average time lag from the first usage to the explanation was 8.4 statements (SD = 13.4).ConclusionsThe large number of jargon words and low number of explanations suggest that many patients may not understand counseling about cancer screening tests. Educational programs and faculty development courses should continue to discourage jargon usage. The methods presented here may be useful for feedback and quality improvement efforts.

The relation between projected breast cancer risk, perceived cancer risk, and mammography use

BACKGROUND: Although the use of mammography on at regular intervals can save lives, not all women obtain the repeat mammography recommended in guidelines.OBJECTIVE: To assess the associations between routine mammography use, perceived cancer risk, and actual projected cancer risk.METHODS: We include women who were 45 to 75 years of age and who had responded to the 2000 National Health Interview Survey. Women who reported that they believed their risk of getting cancer in the future was “medium” or “high” were considered jointly as “medium/high-risk perception.” “Routine mammography use” was defined as having ≥ 3 mammograms in the previous 6 years. We used logistic regression to determine the independent relation between cancer risk perception, projected breast cancer risk, and routine mammography use.RESULTS: Of the 6,002 women who met our inclusion criteria, 63.1% reported routine mammography use. About 76% of women in the highest quartile of projected breast cancer risk reported routine mammography use, compared with only 68%, 64%, and 51% in the third, second, and first quartiles, respectively (P<.001 chi-square test for trend). After adjusting for indicators of access to care, sociodemographic and behavioral factors, and perceived cancer risk, women in the highest quartiles of projected cancer risk were significantly more likely to report routine mammogram use than women in the lowest quartile (odds ratio [OR] of women in third and fourth quartiles were 1.57 [1.24 to 1.99], and 2.23 [1.73 to 2.87] vs the lowest quartile, respectively). Women with a higher perceived cancer risk were significantly more likely to undergo routine mammography (adjusted OR: 1.29 [1.12 to 1.48] P=.001). Cancer risk perceptions tended to be higher among women who were younger age, obese, smokers, depressed, or reported one of the following breast cancer risk factors: family breast cancer history, prior abnormal mammogram, and early age at menarche.CONCLUSION: Actual and perceived risk were independent predictors of routine mammography use, suggesting that efforts to incorporate risk profiles into clinical decision making may need to involve more than just relaying information about projected risks to patients, but also to explore how risk perceptions can be affected by this information.

Does lack of "genetic-relative family health history" represent a potentially avoidable health disparity for adoptees?

Many adoptees face a number of challenges relating to separation from biological parents during the adoption process, including issues concerning identity, intimacy, attachment, and trust, as well as (for older adopted children) language and other cultural challenges. One common health challenge faced by adoptees involves lack of access to genetic-relative family health history (GRFHx). Lack of GRFHx represents a disadvantage due to a reduced capacity to identify diseases and recommend appropriate screening for conditions for which the adopted person may be at increased risk. In this article, we draw out common features of traditionally understood “health disparities” in order to identify analogous features in the context of adoptees’ lack of GRFHx.

Protocol for the “Implementation, adoption, and utility of family history in diverse care settings” study

BackgroundRisk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers to incorporating robust risk assessments into routine care. MeTree, a web-based patient-facing health risk assessment tool, was developed with the aim of overcoming these barriers. In order to better understand what factors will be instrumental for broader adoption of risk assessment programs like MeTree in clinical settings, we obtained funding to perform a type III hybrid implementation-effectiveness study in primary care clinics at five diverse healthcare systems. Here, we describe the study’s protocol.Methods/designMeTree collects personal medical information and a three-generation family health history from patients on 98 conditions. Using algorithms built entirely from current clinical guidelines, it provides clinical decision support to providers and patients on 30 conditions. All adult patients with an upcoming well-visit appointment at one of the 20 intervention clinics are eligible to participate. Patient-oriented risk reports are provided in real time. Provider-oriented risk reports are uploaded to the electronic medical record for review at the time of the appointment. Implementation outcomes are enrollment rate of clinics, providers, and patients (enrolled vs approached) and their representativeness compared to the underlying population. Primary effectiveness outcomes are the percent of participants newly identified as being at increased risk for one of the clinical decision support conditions and the percent with appropriate risk-based screening. Secondary outcomes include percent change in those meeting goals for a healthy lifestyle (diet, exercise, and smoking). Outcomes are measured through electronic medical record data abstraction, patient surveys, and surveys/qualitative interviews of clinical staff.DiscussionThis study evaluates factors that are critical to successful implementation of a web-based risk assessment tool into routine clinical care in a variety of healthcare settings. The result will identify resource needs and potential barriers and solutions to implementation in each setting as well as an understanding potential effectiveness.Trial registrationNCT01956773

A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy

Purpose:The purpose of this qualitative analysis was to assess parental acceptability of large-scale, telephone follow-up regarding their infants’ newborn screening (NBS) results, indicating carrier status for sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF).Methods:Analysis of 195 interview transcripts focused on parents’ responses to two open-ended questions: “What was your reaction to being called by me?” and “What do you think of the state NBS program having follow-up people calling parents like you?” Responses were coded using conventional content analysis procedures, and nonparametric tests were performed to analyze quantitative data.Results:Most parents reported favorable opinions about the follow-up. Favorable opinions were associated with several emotional reactions to receiving follow-up (P <0.001) and three reasons why parents found the interview beneficial (P < 0.05): it provided information, clarified NBS results, and answered questions. Seventeen parents of SCH carriers reportedly had not been told their infant’s NBS results and received them for the first time during the follow-up interview.Conclusion:Parents of CF and SCH carrier infants had favorable opinions and identified specific benefits to receiving follow-up contact. This analysis demonstrates an information deficit among carrier parents and illustrates the importance of NBS follow-up and need for comprehensive communication and counseling.Genet Med 2012:14(2):207–214